Molecular Diagnostics Service
Department of Chemical Pathology, Prince of Wales Hospital, Shatin, New Territories, Hong Kong.

Please contact us prior to sample collection.
Request form
Please provide the following information:
- Full clinical details, important investigation results and family history.
- Name of person responsible for sample collection.
Precaution should be taken to prevent swapping sample in the collection process.
- Name of medical practitioner who obtain informed consent from the patient (or parents / guardian).
Provide proper genetic counselling and obtain informed consent. Patient's (or parents' / guardian's) consent is mandatory for genetic testing. Please see 'Test Classification' for more information about consent.

The Laboratory may refuse to issue a report if it is determined that an informed consent has not been obtained.

Hereditary Diseases
.	Gene / Test	Condition
1	ABCD1	X-linked adrenoleukodystrophy
2	ABCG5	Sitosterolaemia
3	AR (New)	Androgen insensitivity syndrome
4	ATP7B	Wilson disease
5	CASR	Familial hypocalciuric hypercalcaemia
6	CYP21A2	Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
7	GCH1	Dopa-responsive dystonia
8	GCK	Maturity-onset diabetes of the young 2
9	HNF1A	Maturity-onset diabetes of the young 3
10	HNF4A	Maturity-onset diabetes of the young 1
11	Kennedy disease (AR CAG repeats)	Spinal and bulbar muscular atrophy, X-linked
12	MEN1	Multiple endocrine neoplasia type 1
13	OTC	Ornithine transcarbamylase deficiency
14	PAH	Phenylketonuria
15	PHEX	X-linked hypophosphataemia
16	PKD1 (New)	Autosomal dominant polycystic kidney disease
17	POLG	Alpers syndrome and other POLG-related disorders
18	PRRT2	Familial paroxysmal kinesigenic dyskinesia
19	RET	Multiple endocrine neoplasia type 2
20	SCN1A	Dravet syndrome
21	SDHB	Familial paragangliomas 4
22	SDHC	Familial paragangliomas 3
23	SDHD	Familial paragangliomas 1
24	SLC22A5 (New)	Carnitine update defect
25	SLC25A13	Citrin deficiency
26	SLC25A20	Carnitine acylcarnitine translocase deficiency
27	SMN1 MLPA	Spinal muscular atrophy
28	SRD5A2 (New)	5-alpha reductase deficiency
29	TCIRG1	Osteopetrosis, autosomal recessive 1
30	TH	Tyrosine hydroxylase deficiency
31	THRB (New)	Thyroid hormone resistance
32	TOR1A	Torsion dystonia type 1, autosomal dominant
33	VHL	Von Hippel-Lindau syndrome

All genetic tests are classified into 'Level 1' or 'Level 2' according to the NPAAC guideline (National Pathology Accreditation Advisory Council. Requirements for Medical Testing of Human Nucleic Acids. Second Edition 2013.
URL:http://www.health.gov.au/internet/main/publishing.nsf/Content/health-npaac-docs-nad2.htm)

Level 1

Examples: diagnostic testing in an affected subject, testing of healthy subjects with results not predictive of disease in the subject (e.g. determination of carrier status for autosomal recessive disorders), test being done as part of a medical screening programme.
There must be a clear clinical indication for the requested molecular genetic tests.
Consent is mandatory; verbal or written consent are acceptable. For verbal consent, referring doctor must indicate on the request form that consent for testing has been obtained.
Full report will be released in the Hospital Authority Clinical Management System (CMS) if not requested otherwise by the referring doctor.
For carrier detection, truncated report (without result and diagnosis) will be released in the CMS. Full report will be mailed to the referring doctor.

Level 2

Examples: presymptomatic testing of tumour / cancer associated conditions (e.g. multiple endocrine neoplasia type 2), presymptomatic testing involving children (e.g. Wilson disease), presymptomatic testing for disease with minimal treatment benefit (e.g. adult-onset spinal muscular atrophy), prenatal testing for a mutation already defined in the family.
Referral from specialists is required.
Written consent is mandatory.
For selected presymptomatic genetic tests, a second independent blood sample is required to confirm first analysis results.
For presymptomatic testing, truncated report (without result and diagnosis) will be released in the CMS. Full report will be mailed to the referring doctor.

2 bottles of 3 mL EDTA whole blood for post-natal testing (1 bottle of 3 mL EDTA whole blood acceptable for infants and children).
All samples should be properly labelled with patient name and HKID number.
DNA in whole blood is stable at room temperature for 24 Hr. No special handling precaution is necessary if samples can be sent to the laboratory on the day of collection. However, if delay in sample dispatch is expected, please store blood samples at 4 °C for no more than 3 days. Do not freeze blood samples that are scheduled for DNA analysis.
Sample rejection criteria:
- Discordant information on request form and specimen(s).
- Specimens in non-EDTA containers.
- Incomplete information on request form.
- Fewer than 2 patient identifiers on specimen(s).
- Samples with insufficient blood volume for analysis.

Handling of samples and DNA extracted from it after genetic testing is completed:
- The Laboratory may retain and use leftover samples for medical research or use them as control for other genetic conditions after removal of all identifying information.
- Please indicate on the request form if your patient does not consent to this.

Genetic counseling should be regarded as an integral part of genetic testing process. Medical practitioners should provide proper pre-test and post-test counselling to patients undergoing genetic testing.
Patients must be informed about the purpose, limitations, benefits and risks of the genetic test(s) for themselves and their family. Please discuss with us before sending samples to the laboratory.
The sensitivity and specificity of genetic test results are determined by the molecular technique(s) used and these may differ for different genetic tests. Relevant information will be provided in our reports.